期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 179, 期 1, 页码 13-19出版社
WILEY
DOI: 10.1002/ajmg.a.40531
关键词
cerebellar hypoplasia; GPR126; intellectual disability; microcephaly
资金
- National Institute for Medical Research Development [957060, 958715]
- Iranian National Science Foundation [950022, 92038458]
- FP7 project GENCODYS [241995]
Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p.W1088C) in a plausible disease causing gene, GPR126, was identified in two patients presenting with profound ID, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia. The role of GPR126 in radial sorting and myelination in Schwann cells suggests a mechanism of pathogenesis for ID. Involvement of GPR126 in lethal congenital contracture syndrome 9 has been identified previously, but this is the first report of a plausible candidate gene, GPR126, in ID.
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